FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital hypothyroidism ID (Ontology) DOID:0050328 (Human Disease)
Definition A hypothyroidism that is present at birth.
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Spanning Tree (Parents/Children)
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disease
 |__physical disorder__
thyroid gland disease  |
 |__hypothyroidism_____|
                       congenital hypothyroidism  30 rec.
                        |__congenital nongoitrous hypothyroidism 1 1 rec.
                        |__congenital nongoitrous hypothyroidism 2 1 rec.
                        |__congenital nongoitrous hypothyroidism 3
                        |__congenital nongoitrous hypothyroidism 4 1 rec.
                        |__congenital nongoitrous hypothyroidism 5 2 rec.
                        |__congenital nongoitrous hypothyroidism 6
                        |__congenital nongoitrous hypothyroidism 7 1 rec.
                        |__congenital nongoitrous hypothyroidism 8 1 rec.
                        |__congenital nongoitrous hypothyroidism 9 1 rec.
                        |__familial thyroid dyshormonogenesis 22 rec.
                            |__thyroid dyshormonogenesis 1 13 rec.
                            |__thyroid dyshormonogenesis 2A 6 rec.
                            |__thyroid dyshormonogenesis 3
                            |__thyroid dyshormonogenesis 4 1 rec.
                            |__thyroid dyshormonogenesis 5 1 rec.
                            |__thyroid dyshormonogenesis 6 1 rec.
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Is a physical disorder
hypothyroidism
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GARD:1487
ICD10CM:E00.1
ICD10CM:E03.1
ICD9CM:243
MESH:D003409
MIM:PS275200
NCI:C26734
NCI:C98921
SNOMEDCT_US_2023_03_01:217710005
SNOMEDCT_US_2023_03_01:75065003
UMLS_CUI:C0010308
UMLS_CUI:C0342200