890221004: acrocardiofaciaal syndroom (aandoening)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocardiofacial syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial 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 finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Congenital cleft hand\Acrocardiofacial syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of finger\Congenital cleft hand\Acrocardiofacial syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4009951016 Acrocardiofacial syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009954012 Acro-cardio-facial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009955013 Acrocardiofacial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4012130014 ACFS - acrocardiofacial syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4012131013 CCGE - cleft palate, cardiac defect, genital anomalies, ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4012178014 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12051091000146112 acrocardiofaciaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12051101000146117 acrocardiofaciaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12051111000146115 syndroom van palatoschisis, hartdefect, malformatie van geslachtsorganen en ectrodactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4009958010 A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4009959019 A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocardiofacial syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acrocardiofacial syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Acrocardiofacial syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocardiofacial syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocardiofacial syndrome (disorder)	Finding site	Hand structure	true	Inferred relationship	Some	1
Acrocardiofacial syndrome (disorder)	Is a	Congenital cleft hand	true	Inferred relationship	Some
Acrocardiofacial syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Acrocardiofacial syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
Acrocardiofacial syndrome (disorder)	Finding site	Entire finger	true	Inferred relationship	Some	2
Acrocardiofacial syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocardiofacial syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocardiofacial syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets