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

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Macrocephaly (finding)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \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
• \affection de la tête\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
• \affection de la tête\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
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\affection de la tête\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\affection de la tête\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\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\trouble du métabolisme de l'ornithine\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Congenital disease\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\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
• \Disease\trouble du développement\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\trouble du développement\retard de développement\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
5048347010	A rare disorder of ornithine metabolism with characteristics of 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

This concept is not in any reference sets

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