1222658006: Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048343014	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048344015	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048345019	Bachmann Bupp syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048346018	Ornithine decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399990011	A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399991010	A rare disorder of ornithine metabolism characterised by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.	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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