lenz majewski hyperostotic dwarfism

Preferred Label : lenz majewski hyperostotic dwarfism;

MeSH synonym : multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis; delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis; Lenz-Majewski hyperostotic dwarfism;

Détails

Origin ID

C537115;

UMLS CUI

C0432269;

Automatic exact mappings (from CISMeF team)
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
Currated CISMeF NLP mapping
- Lenz-Majewski hyperostotic dwarfism [ICD-11 More detail]
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
- Lenz-majewski hyperostotic dwarfism [OMIM Phenotype]
DO Cross reference
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
Has phenotype(s) (HPO)
- All cases sporadic [HPO term]
- Knee contractures [HPO term]
- Large, floppy ears [HPO term]
- long, flared metaphyses [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
Record concept(s)
- Lenz Majewski hyperostotic dwarfism [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lenz-Majewski hyperostosis syndrome (disorder) [SNOMED CT concept]
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
- Lenz-Majewski hyperostotic dwarfism [ICD-11 More detail]
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
- Lenz-majewski hyperostotic dwarfism [OMIM Phenotype]
- lenz-majewski hyperostosis syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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