720494009: syndroom van anonychie en microcefalie (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)

\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Anonychia with microcephaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Anonychia with microcephaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Anonychia\Anonychia with microcephaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anonychia with microcephaly syndrome (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Anonychia	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Anonychia with microcephaly syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
Anonychia with microcephaly syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Anonychia with microcephaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Anonychia with microcephaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Anonychia with microcephaly syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Anonychia with microcephaly syndrome (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	1
Anonychia with microcephaly syndrome (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Anonychia with microcephaly syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Anonychia with microcephaly syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Anonychia with microcephaly syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3321015014	Anonychia with microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321016010	Anonychia with microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321017018	Teebi Kaurah syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6578801000146119	syndroom van Teebi-Kaurah	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6798361000146116	syndroom van anonychie en microcefalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6798371000146110	syndroom van anonychie en microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321018011	A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core