733095006: Skeletal dysplasia brachydactyly syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\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\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome

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

3498741012 Mononen Karnes Senac syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498742017 Skeletal dysplasia brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498743010 Skeletal dysplasia brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499974010 Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3957351000052114 syndrom med skelettdysplasi och 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
Skeletal dysplasia brachydactyly syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Finding site	Entire digit	false	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Skeletal dysplasia brachydactyly syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Skeletal dysplasia brachydactyly syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia brachydactyly syndrome	Finding site	Entire digit	true	Inferred relationship	Some	1
Skeletal dysplasia brachydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498741012	Mononen Karnes Senac syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498742017	Skeletal dysplasia brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498743010	Skeletal dysplasia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499974010	Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3957351000052114	syndrom med skelettdysplasi och brakydaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)