A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [ NCIT:P378 ]
Synonyms: chondrodysplasia punctata congenita chondrodysplasia calcificans congenita CDP chondrodysplasia punctata (stippled epiphyses) Group
Term information
- DOID:2581 (MONDO:equivalentTo)
- NCIT:C84632 (MONDO:equivalentTo)
- GARD:8542 (MONDO:GARD)
- MEDGEN:3052 (MONDO:equivalentTo)
- MESH:D002806 (Orphanet:93442/e)
- SCTID:360507004 (MONDO:equivalentTo)
- icd11.foundation:1923035846 (Orphanet:93442)
- Orphanet:93442 (MONDO:equivalentTo)
- UMLS:C0008445 (MONDO:equivalentTo)
- ICD10CM:Q77.3 (Orphanet:93442/specific)
- NANDO:2201017 (https://orcid.org/0000-0003-0011-764X)
- ICD9:756.59 (MONDO:relatedTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, rare, harrisons_view_member, harrisons_view_musculoskeletal_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders
http://identifiers.org/snomedct/360507004
http://identifiers.org/medgen/3052
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1923035846
http://linkedlifedata.com/resource/umls/id/C0008445
http://purl.bioontology.org/ontology/ICD10CM/Q77.3
http://purl.obolibrary.org/obo/NCIT_C84632
http://purl.obolibrary.org/obo/DOID_2581
http://identifiers.org/mesh/D002806
http://www.orpha.net/ORDO/Orphanet_93442