726735000: Autosomal recessive amelia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive amelia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Disorder of extremity\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\Autosomal recessive amelia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3452314017 Autosomal recessive amelia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3452315016 Autosomal recessive amelia en Synonym Active Case insensitive SNOMED CT core

3452316015 Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive amelia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive amelia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive amelia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive amelia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Autosomal recessive amelia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive amelia	Is a	Bilateral congenital deformity of upper limbs	false	Inferred relationship	Some
Autosomal recessive amelia	Finding site	Entire right upper limb	true	Inferred relationship	Some	1
Autosomal recessive amelia	Finding site	Entire left upper limb	true	Inferred relationship	Some	3
Autosomal recessive amelia	Associated morphology	Agenesis	true	Inferred relationship	Some	1
Autosomal recessive amelia	Associated morphology	Agenesis	true	Inferred relationship	Some	3
Autosomal recessive amelia	Is a	Congenital complete absence of bilateral upper limbs	true	Inferred relationship	Some
Autosomal recessive amelia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive amelia	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Autosomal recessive amelia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive amelia	Is a	Congenital complete absence of upper limb	false	Inferred relationship	Some
Autosomal recessive amelia	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive amelia	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive amelia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Autosomal recessive amelia	Finding site	Structure of lower limb	true	Inferred relationship	Some	2
Autosomal recessive amelia	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Autosomal recessive amelia	Finding site	Entire upper limb	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3452314017	Autosomal recessive amelia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3452315016	Autosomal recessive amelia	en	Synonym	Active	Case insensitive	SNOMED CT core
3452316015	Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.	en	Definition	Active	Case sensitive	SNOMED CT core