Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut

Preferred Label : Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut;

Symbol : BAIPRCK;

CISMeF acronym : BAIPRCK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urinary bladder, atony of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, neuronal nicotinic, alpha polypeptide 3 gene (CHRNA3, 118503.0002);

Prefixed ID : #191800;

Details

Origin ID

191800;

UMLS CUI

C5231389;

Automatic exact mappings (from CISMeF team)
- Atony of bladder [ICD-9 code]
- Atony of bladder [MedDRA LLT]
- Atony urinary bladder [MedDRA LLT]
- Flaccid neuropathic bladder, not elsewhere classified [ICD-11 More detail]
- Underactive bladder [PASCAL descriptor]
- atony of bladder [SNOMED Notion]
Currated CISMeF NLP mapping
- Atonic urinary bladder [MedDRA Preferred Term]
Genes related to phenotype
- Cholinergic receptor, neuronal nicotinic, alpha polypeptide 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Hydronephrosis [HPO term]
- Hypospadias [HPO term]
- Neurogenic bladder [HPO term]
- Orthostatic hypotension [HPO term]
- Recurrent urinary tract infections [HPO term]
- Slow pupillary light response [HPO term]
- Stage 2 chronic kidney disease [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acontractile detrusor (disorder) [SNOMED CT concept]
- Atonic urinary bladder [MedDRA Preferred Term]
- Atony of bladder [ICD-9 code]
- Atony of bladder [MedDRA LLT]
- Atony urinary bladder [MedDRA LLT]
- Bladder atony [MedDRA LLT]
- atony of bladder [SNOMED Notion]

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