716638009: Longitudinal deficiency of part of limb (disorder)

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

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

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Longitudinal deficiency of part of limb (disorder)	Is a	Congenital disease	false	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Is a	Deformity of limb (finding)	true	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Associated morphology	Abnormal shortening	true	Inferred relationship	Some	1
Longitudinal deficiency of part of limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Longitudinal deficiency of part of limb (disorder)	Finding site	Limb part (body structure)	true	Inferred relationship	Some	1
Longitudinal deficiency of part of limb (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Is a	Congenital deformity	true	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachyphalangia	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Brachydactyly	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
hémimélie d'un membre supérieur	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Longitudinal deficiency of foot	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital undergrowth of partial lower limb	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Longitudinal deficiency of part of upper limb (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital contracture of gastrocnemius muscle (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital abduction contracture of hip	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital flexion contracture of knee	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital contracture of toe joint	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital extension contracture of the knee	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital flexion contracture of hip	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
hémimélie	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.	Is a	False	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Congenital flexion contracture of foot joint (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short digit	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short fourth metacarpal	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short fifth metatarsal	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short fourth metatarsal (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short fifth metacarpal	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short ilium (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short second metacarpal	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short third metacarpal (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short second metatarsal (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some
Abnormally short third metatarsal (disorder)	Is a	True	Longitudinal deficiency of part of limb (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3307003012	Longitudinal deficiency of part of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307004018	Longitudinal deficiency of part of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307005017	Limb part reduction defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307006016	Reduction deformity of part of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6046281000241113	hémimélie partielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046291000241110	raccourcissement congénital d'une partie d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module