725096002: Cryptomicrotia brachydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Deformity\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia, brachydactyly, excess fingertip arch syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3438494018	Cryptomicrotia brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3438495017	Cryptomicrotia, brachydactyly, excess fingertip arch syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3438496016	Tonoki Ohura Niikawa syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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