Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315186011 | This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315187019 | This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401972014 | A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401973016 | A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315194016 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315195015 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315196019 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Disruptive behavior disorder | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | mental retardering | false | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | X-linked hereditary disease (disorder) | false | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Interprets | Muscle tone (observable entity) | true | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR