717813005: Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteopenia\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Global developmental delay, osteopenia, ectodermal defect syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Global developmental delay, osteopenia, ectodermal defect syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3323605011	Global developmental delay, osteopenia, ectodermal defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323610010	This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behaviour (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core
3323611014	This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behavior (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities.	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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