7589002: Brachymegalodactyly (disorder)

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

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachymegalodactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachymegalodactyly
\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\Brachymegalodactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Brachymegalodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachymegalodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Brachymegalodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachymegalodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachymegalodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Brachymegalodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachymegalodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachymegalodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachymegalodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Brachymegalodactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

13547010 Brachymegalodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

816550013 Brachymegalodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachymegalodactyly	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Brachymegalodactyly	Occurrence	Congenital	false	Inferred relationship	Some
Brachymegalodactyly	Finding site	Structure of all toes	false	Inferred relationship	Some	1
Brachymegalodactyly	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Brachymegalodactyly	Finding site	Structure of all fingers	false	Inferred relationship	Some	1
Brachymegalodactyly	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	2
Brachymegalodactyly	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Brachymegalodactyly	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachymegalodactyly	Is a	Congenital anomaly of toe	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Congenital anomaly of hand (disorder)	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Congenital deformity of foot (disorder)	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Congenital anomaly of finger	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Congenital abnormality of foot and toes (disorder)	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Longitudinal deficiency of phalanges of hand	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Longitudinal deficiency of foot	false	Inferred relationship	Some
Brachymegalodactyly	Is a	Brachydactyly	true	Inferred relationship	Some
Brachymegalodactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Brachymegalodactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Brachymegalodactyly	Occurrence	Congenital	false	Inferred relationship	Some	3
Brachymegalodactyly	Finding site	Digit structure	false	Inferred relationship	Some	3
Brachymegalodactyly	Occurrence	Congenital	false	Inferred relationship	Some	4
Brachymegalodactyly	Finding site	Digit structure	false	Inferred relationship	Some	4
Brachymegalodactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	3
Brachymegalodactyly	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	4
Brachymegalodactyly	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Brachymegalodactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachymegalodactyly	Finding site	Digit structure	true	Inferred relationship	Some	2
Brachymegalodactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachymegalodactyly	Finding site	Entire digit	true	Inferred relationship	Some	1
Brachymegalodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachymegalodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Brachymegalodactyly	Is a	Congenital macrodactyly (disorder)	true	Inferred relationship	Some

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
13547010	Brachymegalodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
816550013	Brachymegalodactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core