Metaphyseal chondrodysplasia, kaitila type

Preferred Label : Metaphyseal chondrodysplasia, kaitila type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 250230;

Details

Origin ID

250230;

UMLS CUI

C1855217;

Currated CISMeF NLP mapping
- Metaphyseal chondrodysplasia Kaitila type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, Kaitila type [ORDO Disease]
- metaphyseal chondrodysplasia, kaitila type [MeSH concept]
- metaphyseal chondrodysplasia, kaitila type [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the respiratory system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nail [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Convex nasal ridge [HPO term]
- Delayed proximal femoral epiphyseal ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Enlarged joints [HPO term]
- Finger joint hypermobility [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplastic ilia [HPO term]
- Limb undergrowth [HPO term]
- Limited elbow extension [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Micromelia [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow palate [HPO term]
- Proximal femoral metaphyseal irregularity [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short nail [HPO term]
- Short phalanx of finger [HPO term]
- Short toe [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Widened, irregular metaphyses [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Metaphyseal chondrodysplasia, Kaitila type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal chondrodysplasia Kaitila type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, Kaitila type [ORDO Disease]
- metaphyseal chondrodysplasia, kaitila type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, kaitila type [MeSH concept]

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