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278715001: Chondrodysplasia punctata (stippled epiphyses) group (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
415720018 Chondrodysplasia punctata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
415721019 Chondrodysplasia punctata (stippled epiphyses) group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671906017 Chondrodysplasia punctata (stippled epiphyses) group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5130461000241112 chondrodysplasie ponctuée (épiphyses pointillées) groupe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Finding site Bone structure true Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Occurrence Congenital false Inferred relationship Some
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Finding site Skeletal system structure false Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Finding site Bone structure false Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Occurrence Congenital false Inferred relationship Some 2
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Finding site Bone structure false Inferred relationship Some 2
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Occurrence Congenital true Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia punctata, X-linked recessive type (disorder) Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata, MT type Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata, Conradi-Hünermann type Is a False Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a False Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Hyperphosphatasia-osteoectasia syndrome Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata Is a False Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
chondrodysplasie ponctuée congénitale Is a False Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some
Chondrodysplasia punctata due to maternal autoimmune disease (disorder) Is a True Chondrodysplasia punctata (stippled epiphyses) group (disorder) Inferred relationship Some

This concept is not in any reference sets

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