778006008: aplasie et myélodysplasie autosomiques dominantes (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \perte auditive (trouble)\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (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
3736387018	Autosomal dominant aplasia and myelodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736388011	Autosomal dominant aplasia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736389015	Autosomal dominant aplastic anaemia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736390012	Autosomal dominant aplastic anemia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785151000241113	aplasie et myélodysplasie autosomiques dominantes (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
880841000172118	anémie aplasique et myélodysplasie autosomiques dominantes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
977951000172111	aplasie et myélodysplasie autosomiques dominantes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3736391011	A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3736392016	A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	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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