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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Cataract\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Absence deformity of leg and congenital cataract syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Absence deformity of leg and congenital cataract 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
3304727011	Absence deformity of leg and congenital cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304728018	Absence deformity of leg and congenital cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
11287771000172111	syndrome d'hypoplasie de la jambe avec cataracte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4251001000172113	syndroom van afwezigheid van been en aangeboren staar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4251011000172111	syndroom van afwezigheid van onderste extremiteit en aangeboren staar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4251021000172118	syndroom van afwezigheid van been en congenitaal cataract	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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