890221004: Acrocardiofacial syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

4009954012 Acro-cardio-facial syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4009955013 Acrocardiofacial syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4012130014 ACFS - acrocardiofacial syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets