715531000: Tibial aplasia and ectrodactyly syndrome (disorder)

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

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302940010 Tibial aplasia and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302941014 Tibial aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302942019 Aplasia of tibia with split hand split foot deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302943012 Tibial hemimelia ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302944018 Split hand foot malformation with long bone deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302946016 A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3857461000052114 syndrom med tibiaaplasi och ektrodaktyli 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
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Ectrodactyly	true	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Congenital anomaly of tibia	false	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Finding site	Entire digit	true	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Associated morphology	Aplasia	false	Inferred relationship	Some	3
Tibial aplasia and ectrodactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Tibial aplasia and ectrodactyly syndrome (disorder)	Finding site	Bone structure of tibia	false	Inferred relationship	Some	3
Tibial aplasia and ectrodactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Tibial aplasia and ectrodactyly syndrome (disorder)	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Tibial aplasia and ectrodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tibial aplasia and ectrodactyly syndrome (disorder)	Finding site	Bone structure of tibia	true	Inferred relationship	Some	1
Tibial aplasia and ectrodactyly syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Absence of tibia	false	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	Congenital absence of tibia	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
3302940010	Tibial aplasia and ectrodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302941014	Tibial aplasia and ectrodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302942019	Aplasia of tibia with split hand split foot deformity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302943012	Tibial hemimelia ectrodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302944018	Split hand foot malformation with long bone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302946016	A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3857461000052114	syndrom med tibiaaplasi och ektrodaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)