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

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Chondrodysplasia punctata	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia punctata	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata	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	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, MT type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Hyperphosphatasia-osteoectasia syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	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	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	Inferred relationship	Some
kongenit chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of 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. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked.	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata due to maternal autoimmune disease (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some

This concept is not in any reference sets

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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
2245941000005115	Chondrodysplasia punctata	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)