Thyrotropin-releasing hormone deficiency

Preferred Label : Thyrotropin-releasing hormone deficiency;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hypothalamic hypothyroidism; Trh deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : %275120;

Details

Origin ID

275120;

UMLS CUI

C3887992;

Automatic exact mappings (from CISMeF team)
- Hypothalamic hypothyroidism [HPO term]
- Hypothalamic hypothyroidism (disorder) [SNOMED CT concept]
- Isolated thyrotropin-releasing hormone deficiency [ORDO Disease]
- hypothalamic hypothyroidism [SNOMED Notion]
- thyrotropin releasing hormone [ORDO Gene]
Currated CISMeF NLP mapping
- Thyrotropin-releasing hormone deficiency [ICD-11 More detail]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Delayed skeletal maturation [HPO term]
- Dry skin [HPO term]
- Hoarse voice [HPO term]
- Hypothalamic hypothyroidism [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Muscle weakness [HPO term]
- Short stature [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Isolated thyrotropin-releasing hormone deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hypothalamic Hypothyroidism [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thyrotropin releasing hormone deficiency [MedDRA Preferred Term]
- Thyrotropin-releasing hormone deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients