Dwarfism with stiff joints and ocular abnormalities

Preferred Label : Dwarfism with stiff joints and ocular abnormalities;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Moore-federman syndrome;

Inheritance : Autosomal dominant; ? same as acromicric dysplasia (102370);

Prefixed ID : 127200;

Details

Origin ID

127200;

UMLS CUI

C0265349;

Currated CISMeF NLP mapping
- Dwarfism stiff joint ocular abnormalities [MeSH concept]
- Moore-Federman syndrome [ORDO Disease]
- Moore-Federman syndrome (disorder) [SNOMED CT concept]
- dwarfism stiff joint ocular abnormalities [MeSH Supplementary Concept]
- moore-federman syndrome [SNOMED Notion]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Glaucoma [HPO term]
- Hypermetropia [HPO term]
- Joint stiffness [HPO term]
- Lower limb undergrowth [HPO term]
- Retinal detachment [HPO term]
- Severe short stature [HPO term]
- Short limb dwarfism [HPO term]
- Short lower limbs [HPO term]
- Short phalanx of finger [HPO term]
- Thickened skin [HPO term]
ORDO concept(s)
- Moore-Federman syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dwarfism stiff joint ocular abnormalities [MeSH concept]
- Moore-Federman syndrome [ORDO Disease]
- Moore-Federman syndrome (disorder) [SNOMED CT concept]
- dwarfism stiff joint ocular abnormalities [MeSH Supplementary Concept]
- moore-federman syndrome [SNOMED Notion]

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