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 syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Deformity\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly 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 syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly 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 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 syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly 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 syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly 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 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 syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly 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 syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly 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 syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3438493012 Cryptomicrotia brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3438494018 Cryptomicrotia brachydactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3438495017 Cryptomicrotia, brachydactyly, excess fingertip arch syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3438496016 Tonoki Ohura Niikawa syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cryptomicrotia brachydactyly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Brachymesophalangia	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Congenital abnormality of external ear	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cryptomicrotia brachydactyly syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Finding site	Entire phalanx	false	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Cryptomicrotia brachydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Cryptomicrotia brachydactyly syndrome	Finding site	External ear structure	false	Inferred relationship	Existential restriction modifier	3
Cryptomicrotia brachydactyly syndrome	Finding site	External ear structure	true	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cryptomicrotia brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cryptomicrotia brachydactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Cryptomicrotia brachydactyly syndrome	Finding site	Entire phalanx	false	Inferred relationship	Existential restriction modifier	1
Cryptomicrotia brachydactyly syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Cryptomicrotia brachydactyly syndrome	Finding site	Entire middle phalanx	true	Inferred relationship	Existential restriction modifier	1
Cryptomicrotia brachydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3438493012	Cryptomicrotia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3438494018	Cryptomicrotia brachydactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3438495017	Cryptomicrotia, brachydactyly, excess fingertip arch syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3438496016	Tonoki Ohura Niikawa syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module