1217229007: Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\...
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of face\Lesion of face\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Disorder of face\Lesion of face\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Lesion of face\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5035219012	Developmental delay, short stature, dysmorphic features, sparse hair syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5035220018	Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5035221019	Loucks Innes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5035222014	Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5035223016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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