764942005: syndrome de microphtalmie colobomateuse-dysplasie rhizomélique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia 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\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia 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\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655694011	Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655695012	Colobomatous microphthalmia, rhizomelic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655696013	Microphthalmia, coloboma, rhizomelic skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767341000241118	syndrome de microphtalmie colobomateuse-dysplasie rhizomélique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
883621000172118	syndrome de microphtalmie colobomateuse-dysplasie rhizomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
902651000172110	syndrome de microphtalmie, colobome, dysplasie rhizomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3655697016	A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start