Diabetes insipidus, neurohypophyseal

Preferred Label : Diabetes insipidus, neurohypophyseal;

CISMeF acronym : CDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes insipidus, primary central; CDI; Diabetes insipidus, cranial type;

Description : Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).;

Inheritance : Autosomal dominant;

Prefixed ID : #125700;

Détails

Origin ID

125700;

UMLS CUI

C0687720;

Automatic exact mappings (from CISMeF team)
- Color Flow Doppler Ultrasound Imaging [NCIt concept]
- Hereditary central diabetes insipidus [ORDO Disease]
- libraries, medical [CISMeF resources Type]
- neurohypophyseal diabetes insipidus [DO Concept]
Currated CISMeF NLP mapping
- CD-I [MeSH concept]
- Central diabetes insipidus [ORDO Disease]
- Central diabetes insipidus [HPO term]
- Compact Disc-Interactive [NCIt concept]
- Neurogenic Diabetes Insipidus [NCIt concept]
- Neurohypophyseal diabetes insipidus (disorder) [SNOMED CT concept]
- diabetes insipidus, neurogenic [MeSH Descriptor]
- diabetes insipidus, neurogenic [MeSH concept]
- neurogenic diabetes insipidus [Disease (Nov.)]
- neurohypophyseal diabetes insipidus, nos [SNOMED Notion]
DO Cross reference
- neurohypophyseal diabetes insipidus [DO Concept]
False automatic mappings
- CD-I [MeSH Descriptor]
- CD-I [EFMI term]
- Diabetes insipidus (disorder) [SNOMED CT concept]
Genes related to phenotype
- Arginine vasopressin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Central diabetes insipidus [HPO term]
- Decreased circulating osteocalcin level [HPO term]
- Gliosis [HPO term]
- Hypertelorism [HPO term]
- Long philtrum [HPO term]
- Osteopenia [HPO term]
- Short nose [HPO term]
- Short, broad nose [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Central diabetes insipidus [ORDO Disease]
- Hereditary central diabetes insipidus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antidiuretic hormone deficiency [MedDRA LLT]
- Central diabetes insipidus [MedDRA LLT]
- Central diabetes insipidus [ORDO Disease]
- Central diabetes insipidus [HPO term]
- Neurogenic Diabetes Insipidus [NCIt concept]
- Neurohypophyseal diabetes insipidus (disorder) [SNOMED CT concept]
- Pituitary diabetes insipidus [MedDRA LLT]
- Vasopressin deficiency [MedDRA LLT]
- diabetes insipidus, neurogenic [MeSH Descriptor]
- diabetes insipidus, neurogenic [MeSH concept]
- neurogenic diabetes insipidus [Disease (Nov.)]
- neurohypophyseal diabetes insipidus [DO Concept]
- neurohypophyseal diabetes insipidus, nos [SNOMED Notion]

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