Microcephalic primordial dwarfism, montreal type

Preferred Label : Microcephalic primordial dwarfism, montreal type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Bird-headed dwarfism, montreal type;

Inheritance : Autosomal recessive;

Prefixed ID : 210700;

Details

Origin ID

210700;

UMLS CUI

C1859468;

Currated CISMeF NLP mapping
- Bird headed dwarfism Montreal type [MeSH concept]
- Microcephalic primordial dwarfism Montreal type (disorder) [SNOMED CT concept]
- Microcephalic primordial dwarfism, Montreal type [ORDO Disease]
- bird headed dwarfism montreal type [MeSH Supplementary Concept]
HPO term(s)
- Abnormally large globe [HPO term]
- Alopecia of scalp [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral hypoplasia [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Dwarfism, birth weight normal [HPO term]
- Excessive wrinkling of palmar skin [HPO term]
- Intellectual disability [HPO term]
- Narrow face [HPO term]
- Premature graying of hair [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Severe short stature [HPO term]
- obsolete Brain very small [HPO term]
ORDO concept(s)
- Microcephalic primordial dwarfism, Montreal type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bird headed dwarfism Montreal type [MeSH concept]
- Microcephalic primordial dwarfism Montreal type (disorder) [SNOMED CT concept]
- Microcephalic primordial dwarfism, Montreal type [ORDO Disease]
- bird headed dwarfism montreal type [MeSH Supplementary Concept]

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