770625006: Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection dégénérative\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701682019	Roifman Chitayat syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701683012	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701684018	Combined immunodeficiency with faciooculoskeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701685017	An extremely rare combined immunodeficiency disorder characterised by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral oedema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701686016	An extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	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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