778067002: Brachytelephalangic chondrodysplasia punctata (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\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\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\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\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\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737612017 Brachytelephalangic chondrodysplasia punctata (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3737613010 Brachytelephalangic chondrodysplasia punctata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3737614016 BCDP - brachytelephalangic chondrodysplasia punctata en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737616019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737617011 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 generalized, 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4221961000052119 brakytelefalangisk chondrodysplasia punctata sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737612017	Brachytelephalangic chondrodysplasia punctata (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737613010	Brachytelephalangic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737614016	BCDP - brachytelephalangic chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737616019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737617011	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 generalized, 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4221961000052119	brakytelefalangisk chondrodysplasia punctata	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)