716099003: Absence deformity of leg and congenital cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Finding of limb structure\Finding of lower limb\Absence of lower limb\Absence deformity of leg and congenital cataract syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome

\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absence deformity of leg and congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absence deformity of leg and congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Absence deformity of leg and congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Absence deformity of leg and congenital cataract syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304727011 Absence deformity of leg and congenital cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3304728018 Absence deformity of leg and congenital cataract syndrome en Synonym Active Case insensitive SNOMED CT core

3304729014 A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Absence deformity of leg and congenital cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Absence deformity of leg and congenital cataract syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Absence deformity of leg and congenital cataract syndrome	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Absence deformity of leg and congenital cataract syndrome	Is a	Congenital absence	false	Inferred relationship	Some
Absence deformity of leg and congenital cataract syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Absence deformity of leg and congenital cataract syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Absence deformity of leg and congenital cataract syndrome	Finding site	Structure of lower limb	false	Inferred relationship	Some	3
Absence deformity of leg and congenital cataract syndrome	Finding site	Structure of lower limb	true	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome	Is a	Absence of lower limb	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304727011	Absence deformity of leg and congenital cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304728018	Absence deformity of leg and congenital cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304729014	A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	en	Definition	Active	Case sensitive	SNOMED CT core