725096002: Cryptomicrotia brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Deformity (finding)\Deformation of bone\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)

\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Cryptomicrotia brachydactyly syndrome (disorder)

\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Cryptomicrotia brachydactyly syndrome (disorder)
\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 (disorder)
\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 (disorder)

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

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

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

5403389018 A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403390010 A rare genetic, congenital malformation syndrome characterised by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. 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

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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
5403389018	A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403390010	A rare genetic, congenital malformation syndrome characterised by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core