Blue diaper syndrome

Preferred Label : Blue diaper syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hypercalcemia, familial, with nephrocalcinosis and indicanuria;

Inheritance : Autosomal recessive vs. x-linked;

Prefixed ID : 211000;

Details

Origin ID

211000;

UMLS CUI

C0268478;

Currated CISMeF NLP mapping
- Blue diaper syndrome [ICD-11 More detail]
- Blue diaper syndrome [MeSH concept]
- Blue diaper syndrome [ORDO Disease]
- Tryptophan malabsorption syndrome (disorder) [SNOMED CT concept]
- blue diaper syndrome [MeSH Supplementary Concept]
- tryptophan malabsorption syndrome [SNOMED Notion]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormal circulating tryptophan concentration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypercalcemia [HPO term]
- Nephrocalcinosis [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Blue diaper syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blue diaper syndrome [ORDO Disease]
- Blue diaper syndrome [MeSH concept]
- Blue diaper syndrome [ICD-11 More detail]
- Tryptophan malabsorption syndrome (disorder) [SNOMED CT concept]
- blue diaper syndrome [MeSH Supplementary Concept]
- tryptophan malabsorption syndrome [SNOMED Notion]

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