720984008: Angel-shaped phalangoepiphyseal dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Disorder of extremity\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322777015	Angel-shaped phalangoepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322778013	Angel-shaped phalangoepiphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322779017	Angel-shaped phalango-epiphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322780019	ASPED - angel-shaped phalango-epiphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3322783017	A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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