FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

43476002: Brachydactyly (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

72517016 Brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780492016 Brachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2008081000052112 brakydaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Brachydactyly	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Some
Brachydactyly	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Some
Brachydactyly	Is a	Disorder of digit	false	Inferred relationship	Some
Brachydactyly	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Brachydactyly	Finding site	Limb structure	false	Inferred relationship	Some	2
Brachydactyly	Is a	Congenital anomaly of digit (disorder)	false	Inferred relationship	Some
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Some
Brachydactyly	Is a	Deformity (finding)	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Brachydactyly	Is a	Deformity of limb (finding)	false	Inferred relationship	Some
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Some	2
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Brachydactyly	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Brachydactyly	Is a	Longitudinal deficiency of part of limb (disorder)	true	Inferred relationship	Some
Brachydactyly	Finding site	Entire digit	false	Inferred relationship	Some	1
Brachydactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly	Is a	Congenital deformity	false	Inferred relationship	Some
Brachydactyly	Is a	Congenital abnormal shape of digit	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachydactyly of toes	Is a	True	Brachydactyly	Inferred relationship	Some
synbrakydaktyli	Is a	False	Brachydactyly	Inferred relationship	Some
Brachydactyly of hand	Is a	True	Brachydactyly	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachyphalangia	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type E	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly NOS	Is a	False	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type C (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachymegalodactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Longitudinal deficiency of phalanges of hand	Is a	False	Brachydactyly	Inferred relationship	Some
Microdactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly-missing phalanx	Is a	False	Brachydactyly	Inferred relationship	Some
Brachydactyly-all 3 phalanges	Is a	False	Brachydactyly	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A2 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A5 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A7 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Mammary digital nail syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Keutel syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Symbrachydactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type B2 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of finger of right hand	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of finger of left hand (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type D (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A3 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Sugarman brachydactyly (disorder)	Is a	True	Brachydactyly	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
72517016	Brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2008081000052112	brakydaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)