720498007: Aphalangy and syndactyly with microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\...

\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome

\Adactyly\Aphalangy and syndactyly with microcephaly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome
\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy and syndactyly with microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3321032013 Aphalangy and syndactyly with microcephaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321033015 Aphalangy and syndactyly with microcephaly syndrome en Synonym Active Case insensitive SNOMED CT core

3321034014 An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aphalangy and syndactyly with microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aphalangy and syndactyly with microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Aphalangy and syndactyly with microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Structure of head	true	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Aphalangy and syndactyly with microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Adactyly	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Is a	Syndactyly	true	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Digit structure	false	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Digit structure	false	Inferred relationship	Some	4
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Aphalangy and syndactyly with microcephaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Aphalangy and syndactyly with microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Some	5
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Aphalangy and syndactyly with microcephaly syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4

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
3321032013	Aphalangy and syndactyly with microcephaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321033015	Aphalangy and syndactyly with microcephaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321034014	An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	en	Definition	Active	Case sensitive	SNOMED CT core