Immunoglobulin Superfamily Member 1 Deficiency Syndrome

Preferred Label : Immunoglobulin Superfamily Member 1 Deficiency Syndrome;

NCIt related terms : Hypothyroidism Central and Testicular Enlargement;

Alternative definition : NICHD: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.;

Details

Origin ID

C130989;

UMLS CUI

C3550963;

Currated CISMeF NLP mapping
- Hypothyroidism, central, with testicular enlargement [OMIM Phenotype]
- IGSF1 deficiency syndrome [DO Concept]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement [ORDO Disease]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypothyroidism, central, with testicular enlargement [OMIM Phenotype]
- IGSF1 deficiency syndrome [DO Concept]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement [ORDO Disease]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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