778067002: Brachytelephalangic chondrodysplasia punctata (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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 (disorder)\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 (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 (disorder)\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata (disorder)
• \Disease\Developmental disorder (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
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
3411591001000116	Chondrodysplasia punctata, brachytelephalangealer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962491000172116	chondrodysplasie ponctuée avec brachytéléphalangie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962491000172116	chondrodysplasie ponctuée avec brachytéléphalangie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411591001000116	Chondrodysplasia punctata, brachytelephalangealer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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