717813005: Global developmental delay, osteopenia, ectodermal defect syndrome (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\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (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\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (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\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323604010	Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323605011	Global developmental delay, osteopenia, ectodermal defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401606013	A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401607016	A rare genetic disease characterised by global developmental delay with language and cognition deficiencies, behavioural problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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