725096002: Cryptomicrotia brachydactyly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Deformity (finding)\déformation d'un os\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (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 external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome (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 abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly 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\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly 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\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3438493012	Cryptomicrotia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438494018	Cryptomicrotia brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438495017	Cryptomicrotia, brachydactyly, excess fingertip arch syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438496016	Tonoki Ohura Niikawa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438497013	This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988.	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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