253959002: Hypoplasia of lower limb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of lower limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of lower limb
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of lower limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Hypoplasia of lower limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of lower limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378077013 Hypoplasia of lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644785017 Hypoplasia of lower limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3752818018 Rudimentary leg en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5080531000241119 hypoplasie du membre inférieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoplasia of lower limb	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Hypoplasia of lower limb	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Hypoplasia of lower limb	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hypoplasia of lower limb	Occurrence	Congenital	false	Inferred relationship	Some
Hypoplasia of lower limb	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Hypoplasia of lower limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	2
Hypoplasia of lower limb	Is a	Disorder of musculoskeletal system (disorder)	false	Inferred relationship	Some
Hypoplasia of lower limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	2
Hypoplasia of lower limb	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	Hypoplasia	false	Inferred relationship	Some	1
Hypoplasia of lower limb	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypoplasia of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	3
Hypoplasia of lower limb	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Hypoplasia of lower limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Hypoplasia of lower limb	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	true	Inferred relationship	Some	1
Hypoplasia of lower limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypoplasia of lower limb	Is a	Congenital hypoplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of pubis	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of fibula	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of tarsal bone	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of tibia	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of ilium	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of femur	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of ischium	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of metatarsal bone	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Hypoplasia of sacrum (disorder)	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of patella (disorder)	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of arch of sacral vertebra	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of bone of lower limb (disorder)	Is a	True	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of great toe (disorder)	Is a	False	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of muscle of thigh (disorder)	Is a	True	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of posterior crural muscle (disorder)	Is a	True	Hypoplasia of lower limb	Inferred relationship	Some
Congenital hypoplasia of toe (disorder)	Is a	True	Hypoplasia of lower limb	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378077013	Hypoplasia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644785017	Hypoplasia of lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3752818018	Rudimentary leg	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5080531000241119	hypoplasie du membre inférieur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module