Preferred Label : Trichoscyphodysplasia;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Cupped metaphyses and cone-shaped epiphyses with alopecia; Metaphyseal chondrodysplasia with ectodermal dysplasia; Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia;
Prefixed ID : %609990;
Origin ID : 609990;
UMLS CUI : C1864943;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)